The aim of this sub-theme is to drive the translation of novel genomics technologies and tests into clinical practice.
Recent highlights from this programme include the successful launch of new NHS diagnostic tests based on NGS Haloplex panels for Sudden Cardiac Death, Retinal Dystrophy, Joubert Syndrome, and Ataxia.
Whole genome sequencing in the NHS
This project is funded by a £6m grant from the Health Innovation Challenge Fund and represents an ambitious undertaking to appraise the clinical utility and cost-effectiveness of whole genome sequencing for the diagnosis of genetic disease in the NHS. It aims to establish the necessary infrastructure, clinical pathways for referrals, robust experimental workflows and data analysis pipelines, as well as software and data storage solutions, and expertise in bioinformatics. In the longer term it is hoped that this project will act as a benchmark for the NHS more widely and lead to a better service for all patients with undiagnosed genetic diseases.